A Novel CRYGD Mutation (p.Trp43Arg) Causing Autosomal Dominant Congenital Cataract in a Chinese Family

To identify the genetic defect associated with autosomal dominant congenital nuclear cataract in a Chinese family, molecular genetic investigation via haplotype analysis and direct sequencing were performed Sequencing of the CRYGD gene revealed a c.127T>C transition, which resulted in a substitut...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Hauptverfasser: Wang, Binbin, Yu, Changhong, Xi, Yi-Bo, Cai, Hong-Chen, Wang, Jing, Zhou, Sirui, Zhou, Shiyi, Wu, Yi, Yan, Yong-Bin, Ma, Xu, Xie, Lixin
Format: Artigo
Sprache:Inglês
Veröffentlicht: Wiley Subscription Services, Inc., A Wiley Company 2011
Schlagworte:
Mutation in Brief
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3035819/
https://ncbi.nlm.nih.gov/pubmed/21031598
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.21386
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